Hutchinson-Gilford Progeria Syndrome “Progeria” or “HGPS” is a rare and fatal genetic condition characterized by an appearance of accelerated aging in children. This disease affects approximately 1 in 4-8 million newborns with an estimated 200-250 children living with Progeria worldwide. It affects both sexes equally and all races. Children who are born with Progeria may not exhibit symptoms until the first year of life often characterized by; growth failure, loss of body fat and hair, aged-looking skin and stiffness of joints. As children get older some of the many conditions they suffer from are osteoporosis, generalized atherosclerosis, cardiovascular disease and stroke. Many to all children affected by Progeria die of atherosclerosis at an average age of thirteen (Proc Natl Acad Sci U S A, 2012) ( The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria, Chapter 3, 2010.)
A student with Progeria would qualify as an OHI under IDEA because they would have limited strength due to their small stature and bone afflictions. Vitality and/or alertness would also be affected because many students don’t have enough stamina for a full school day without rests. Students are also at a greater risk for heart complications and other health emergencies that may need proper monitoring throughout the school day by a caretaker. All of these and many more issues are due to their chronic health problems which adversely affect the pupil’s educational performance (Parent Information Network, 2008) (Proc Natl Acad Sci U S A, 2012) ( The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria, Chapter 3, 2010) ( The Progeria Handbook; A Guide for Families and Health Care Pr...
... middle of paper ...
...gns of stroke, heart failure, or what to do in the case of a seizure. This information will be invaluable in the case of an emergency. In addition, students with Progeria may be on many medications, the school nurse as well as other staff need be aware of this and their possible side effects. All of this and much of the information above need to be included in the child’s IHCP. Although this disease is rare it’s not impossible to be faced with a child whom is afflicted; with proper parent and staff communications the child can have a positive and accomplished schooling experience ("Ihcp - individualized," ) ("Individual health care," ) ( The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria, Chapter 3, 2010) ( The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria, Chapter 16, 2010.)
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.
Duane Syndrome is an inherited unusual type of strabismus (squint) most often described by the incapability of the eye(s) to move inwards, outwards individually or together. This was first reported via ophthalmologists Jakob Stilling in 1887 and also Siegmund Türk in 1896. The syndrome was named after Alexander Duane, who explained the disorder more specifically in 1905. The syndrome is described as a miswiring of the eye muscles, causing eye muscles to tighten when they don’t need to and other eye muscles not to tighten when they need to. Very often patients get the syndrome by the age of 10 and it is more common in females (60% of the cases) than males (40% of the cases). Although the eye is usually the abnormality associated with Duane Syndrome, there are other bodily functions that can be affected. Duane syndrome cannot be cured, because the cranial nerve is missing and it cannot be replaced. The gene known as “SALL4” has been associated as a cause of this condition.
This chapter will begin with a short explanation of what Muscular Dystrophy is and a general information paragraph over each type of the major muscular dystrophies today.
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
The effects of multiple disabilities are often both multiplicative and interactive. Cerebral Palsy is a disability that originates from damage to the central nervous system, but which is often accompanied by sensory, communication, orthopedic, learning and cognitive abilities. The complex nature of cerebral palsy is related to differences in causation and the nature and degree of motor involvement. In this paper, Cerebral Palsy will be defined and described, followed by discussion of conditions that frequently occur with this disability. A description of the impact of cerebral palsy on physical and communication development will also be discussed.
Similar to IDEA, is Section 504 of the Act. Students are eligible for Section 504 if they have a "physical or mental impairment which substantially limits a major life activity." Section 504 also requires schools to meet certain evaluation criteria in order to assess how a student's disability affects the child's educational performance.
Journal of Intellectual & Developmental Disability, by Dillenburger, K., and Keenan M., published in 2009, summarized Nov 19, 2009
Stein R.E. (2001). Challenges in Long Term Health Care for Children. Ambulatory Pediatrics. 1(5), pp. 280-288.
...ded to occur in this realm of education. Before EHA and IDEA, how many students were neglected by the public school system; sent off to institutions to waste away. Families were facing the financial burden of paying for the facility that housed the child they were told would never amount to anything. As a result of these life changing laws, you will see a physically handicapped professor in front of a class, a paraplegic physician making her rounds in a hospital. Everyone has a dream. This author’s daughter who has Fetal Alcohol Syndrome wants to be a teacher. She is classified as mentally retarded yet has goals and dreams. Will she achieve this particular dream? Most likely not, but this author knows that the public education system will provide Hannah with an IEP and FAPE that will provide her with the proper tools to live a happy and content life.
Students with high-incidence disabilities or HID are the most common in schools. The group of high incidence disabilities include students with emotional, behavioral or mild intellectual disabilities as well as those with autism, speech or language impairments and attention deficit disorder (Gage et al., 2012). Students with HID are usually taught within the general education classroom. There are either co-teachers or a resource teacher that takes the students out of the general education classroom for short periods of time to work in a more individual, structured environment (Personal Improvement Center, n.d.).... ...
This realization and knowledge has presented itself in the most realistic way just within the past three years, while I continually helped disabled children learn various life skills. In these three years, my attention was unforgivably snagged by one child, Damion, who seemed to have an unfathomable web of trials and difficulties in his fragile little life. On an undying attempt to learn more about this child, I started working with him one-on-one and with his therapists and teachers. I soon came to realize that Damion had moderate to severe learning disabilities, speech impediments, fine (small muscles) and gross (large muscles) motor problems and sensory difficulties. His previous doctors considered Kabuki Syndrome, an extremely rare disease that is terribly difficult to diagnose, as a possible diagnosis.
Physically my family shows a readiness to learn in her ability to perform tasks and can meet the cognitive and psychomotor requirements to complete learning tasks. One possible physical barrier that can be identified is energy and comfort tolerance to complete learning needs and participate in meetings. According
High Incidence disabilities are mild disabilities that affect most of the special education students in schools today. “Approximately 36 percent of all students with disabilities served under IDEA have specific learning disabilities.” (Turnbull, Turnbull, Wehmeyer & Shogren, 2016 p. 104)The three areas that fall under the title of a high incidence disabilities are learning disabilities, mild intellectual disabilities, and emotional/ behavioral disorders. Students with high incidence disabilities are taught and spend most of their time in the general education classroom. They are supported in the classroom with accommodations, modifications, paraprofessionals and related services to help them succeed. They may spend a portion of their day receiving support from a special education teacher, or another related service providers such as a speech pathologist, physical therapist, occupational therapist, or social worker outside of the classroom. It becomes apparent when students start school which ones have a high incidence disability. This is because when they start school educators begin to notice they are different from their peers sometimes socially, behaviorally, or they begin to struggle academically. They all share some similar traits such as a short attention span and lower academic skills in certain areas or subjects. They may also have difficulties with their behavior or social development. At that point they may be referred to for testing or an evaluation to see what might be going on with the student.
In society today, there are many children and parents who face the diagnosis of having a developmental disability that would qualify them for special education and needs. This time can come with many questions for the parents when they realize the specialized care and education their child will need. Most often, questions arise about their schooling and how they will be included with other children, as well as what services are available to their child. How their disability impacts their life is a very valid concern because their education will be impacted. When a disability is discovered, it effects trickle down from the child to the parents, to the teachers and finally the medical and educational specialists.